ELN

elastin
OMIM: 130160, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Red ELN in Cerebral vascular malformations Level 2: Neurology Version 4.10 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Yorkshire and North East GLH NHS GMS Expert list Phenotypes Moyamoya disease Aneurysm, intracranial berry, 1 105800
Red ELN in Familial pulmonary fibrosis Level 3: Interstitial lung disorders Level 2: Respiratory disorders Version 1.32	review	Not set	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Pulmonary Disease
Red ELN in Pneumothorax - familial Level 2: Respiratory Version 3.6 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Red Expert list Phenotypes Cutis laxa
Amber ELN in Rare genetic inflammatory skin disorders Level 2: Dermatology Version 4.16 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber
Green ELN in Familial non syndromic congenital heart disease Level 3: Congenital heart disease Level 2: Cardiovascular disorders Version 1.90	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Supravalvar aortic stenosis, 185500
Green ELN in Thoracic aortic aneurysm or dissection (GMS) Level 2: Cardiology Version 4.5 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green South West GLH London South GLH South West GLH London South GLH Phenotypes Supravalvar aortic stenosis, 185500 Cutis laxa, autosomal dominant, 123700
Green ELN in Thoracic aortic aneurysm or dissection Level 3: Connective tissue disorders and aortopathies Level 2: Cardiovascular disorders Version 1.129	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH Expert Review Green Expert list Phenotypes Cutis laxa, autosomal dominant, 123700 Supravalvar aortic stenosis, 185500
Green ELN in Ehlers Danlos syndrome with a likely monogenic cause Level 2: Musculoskeletal Version 4.6 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Emory Genetics Laboratory Expert list UKGTN Radboud University Medical Center, Nijmegen Phenotypes Cutis laxa, autosomal dominant, OMIM:123700
Green ELN in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes ELN-RELATED CUTIS LAXA SUPRAVALVAR AORTIC STENOSIS
Green ELN in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ELN-RELATED CUTIS LAXA 314088 SUPRAVALVAR AORTIC STENOSIS 185500
Red ELN in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Supravalvar aortic stenosis, 185500 Cutis laxa, AD, 123700
Green ELN in Elastin-related phenotypes Level 2: Cardiology Version 1.3 Latest signed off version: v1.0 (14 Sep 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Cutis laxa, autosomal dominant, OMIM:123700 Supravalvar aortic stenosis, OMIM:185500 cutis laxa, autosomal dominant 1, MONDO:0007411 supravalvular aortic stenosis, MONDO:0008504